T318M (p.Thr318Met) variant of CYP11B1 (P15538)
T318M (p.Thr318Met) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T318M (p.Thr318Met) variant details
- p.Thr318Met
- rs104894061
- ClinGen CA339876
- ClinVar RCV000001232
- ClinVar RCV001066246
- Pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.86
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)